ORPHA:3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Also known as: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome · SBBYS variant of Ohdo syndrome · SBBYSS · Say-Barber-Biesecker-Young-Simpson syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
142
70.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,586
Distinct authors in sample
Gene link
KAT6B
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies syndrome characterized by the association of a typical facial with microcephaly associated with hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global , and . Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. heart defects and growth delay are variably present.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011365
- MeSH:C536717
- OMIM:603736
- UMLS:C1863557
Additional Mondo synonyms (4)
Ohdo syndrome, SBBYS variant · SBBYSS syndrome · blepharophimosis - intellectual disability syndrome, SBBYS type · hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — KAT6B
- LiteraturePresent
142 matched papers (125 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (KAT6B).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
142
142 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
142 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
125 in the last 10 years · high confidence · 70.2th percentile (publications denominator)
Phrase hits: 142 · MeSH hits: 0
Who's working on it?
1,586
Distinct author names in 142 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sadikovic B17 papers · 2025
Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 02Campeau PM12 papers · 2025
Department of Pediatrics, Centre de Recherche du CHU Ste-Justine, Montreal, Canada.
Papers in Europe PMC - 03Kerkhof J11 papers · 2024
Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 04Levy MA11 papers · 2025
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
Papers in Europe PMC - 05McConkey H9 papers · 2025
Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 06Alders M7 papers · 2025
Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 07Aref-Eshghi E7 papers · 2021
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.
Papers in Europe PMC - 08Haghshenas S7 papers · 2024
Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 09Gibbs RA6 papers · 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 10Henneman P6 papers · 2024
Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Blepharophimosis-intellectual disability syndrome, SBBYS type" OR "Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" OR "SBBYS variant of Ohdo syndrome" OR "SBBYS variant of the Ohdo syndrome" OR "SBBYSS" OR "Say-Barber-Biesecker-Young-Simpson syndrome" OR "Ohdo syndrome, SBBYS variant" OR "SBBYSS syndrome" OR "blepharophimosis - intellectual disability syndrome, SBBYS type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Blepharophimosis-intellectual disability syndrome, SBBYS type" OR "Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" OR "SBBYS variant of Ohdo syndrome" OR "SBBYS variant of the Ohdo syndrome" OR "SBBYSS" OR "Say-Barber-Biesecker-Young-Simpson syndrome" OR "Ohdo syndrome, SBBYS variant" OR "SBBYSS syndrome" OR "blepharophimosis - intellectual disability syndrome, SBBYS type" OR "KAT6B"
Recall-expansion terms: KAT6B
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:05:40.660Z